High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis

Kornélia Tripolszki, Dóra Török, David Goudenège, Katalin Farkas, Adrienn Sulák, Nóra Török, József I. Engelhardt, Péter Klivényi, Vincent Procaccio, Nikoletta Nagy, Márta Széll

Research output: Contribution to journalArticle

9 Citations (Scopus)


Background: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the degeneration of the motor neurons. To date, 126 genes have been implicated in ALS. Therefore, the heterogenous genetic background of ALS requires comprehensive genetic investigative approaches. Methods: In this study, DNA from 28 Hungarian ALS patients was subjected to targeted high-throughput sequencing of the coding regions of three Mendelian ALS genes: FUS, SETX, and C9ORF72. Results: A novel heterozygous missense mutation (c.791A>G, p.N264S) of the SETX gene was identified in a female patient presenting an atypical ALS phenotype, including adult onset and lower motor neuron impairment. No further mutations were detected in the other Mendelian ALS genes investigated. Conclusion: Our study contributes to the understanding of the genetic and phenotypic diversity of motor neuron diseases (MNDs). Our results also suggest that the elucidation of the genetic background of MNDs requires a complex approach, including the screening of both Mendelian and non-Mendelian genes.

Original languageEnglish
Article numbere00669
JournalBrain and Behavior
Issue number4
Publication statusPublished - Apr 2017


  • ALS4
  • SETX gene
  • motor neuron disease
  • p.N264S missense mutation
  • targeted sequencing

ASJC Scopus subject areas

  • Behavioral Neuroscience

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